Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel–associated retinopathy

Autor: Richard G. Weleber, Robert Lukowski, M. W. Seeliger, Christina Brennenstuhl, Anne E. Bausch, Xiangang Zong, Sascha Venturelli, John R. Heckenlively, Vithiyanjali Sothilingam, Stylianos Michalakis, Susanne C. Beck, Günther Rudolph, Naoyuki Tanimoto, Ulrich Kellner, Peggy Reuter, Anja K. Mayer, Ditta Zobor, Susanne Kohl, Bernd Wissinger, Gesa Astrid Hahn, Britta Baumann, Paul A. Sieving, Xi-Qin Ding, Nicole Weisschuh, Christian P. Hamel, Martin Biel, Robert K. Koenekoop, Peter Ruth, Peter Charbel Issa, Timm Krätzig, Gesine Huber, Elvir Becirovic, Markus Burkard, Katrin Junger

Publikováno v: The Journal of clinical investigation, vol 128, iss 12
Journal of Clinical Investigation
Journal of Clinical Investigation, American Society for Clinical Investigation, 2018, 128 (12), pp.5663--5675. ⟨10.1172/JCI96098⟩

International audience; Mutations in CNGA3 and CNGB3, the genes encoding the subunits of the tetrameric cone photoreceptor cyclic nucleotide–gated ion channel, cause achromatopsia, a congenital retinal disorder characterized by loss of cone functio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::470e7ba4f9a01dd349b61665c4c93838
https://doi.org/10.1172/jci96098